[Late diagnosis of Gaucher's disease - care reports]. / Pózne rozpoznawanie choroby Gauchera ­ opisy przypadków.

Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease. CASE REPORTS: Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher's disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its "ultra-rare" character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology. CONCLUSIONS: Early diagnosis of the Gaucher's disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.

[Ventilatory disorders in patients with chronic heart failure]. / Zaburzenia czynnosci wentylacyjnej pluc u pacjentów z przewlekla niewydolnoscia serca.

Chronic heart failure (CHF) is a condition in which both structure and functional capacity of cardiac muscle are impaired, resulting in ineffective peripheral tissue perfusion. Affecting numerous organs and systems, it is currently considered to be a systemic illness. Among significant, however until now, hardly recognized consequences of CHF there are ventilatory disorders. Their presence may be explained by proximity of heart and lungs inside rib cage or by close functional cooperation between these two organs. Ventilatory disorders clinically manifest as exacerbations of the underlying disease, i.e. intense dyspnea--primarily exertional in nature, over time, present even at rest. On the basis of functional pulmonary tests, ventilatory disorders may be classified into three categories: restrictive, obstructive and most commonly--mixed. The restrictive model is represented in bodypletysmography as reduction in the total lung capacity to values less than 5th percentile of the predicted values for normals, while Tiffeneau index remains intact. Such condition may probably result from the chronic inflammatory process affecting lung tissue, for which the reaction of macrophage cells to both pulmonary stasis, as well as increased volume of interstitial and alveolar fluid remains the underlying cause. The increased formation of connective tissue fibers engenders thickening of alveolar-capillary membrane, occurrence of disturbed oxygen diffusion and emergence of hypoxemic respiratory failure. Ventilatory disorders of obstructive nature are characterised by reduction of Tiffeneau index--the calculated ratio between forced expiratory volume in 1. second and forced vital capacity--to values below 5th percentile of the predicted range. The research results indicate for the presence of bronchiolar narrowing--dominant in small-diameter bronchi and bronchioles, with larger structures being unaffected--clearly depicted in spirometry as reduced levels of forced expiratory flow after exhaling 50% and 75% of forced vital capacity. Due to a considerable epidemiological problem, as well as significance of the clinical symptoms manifesting ventilatory disorders in course of chronic heart failure, there should be put emphasis on cardiac injury prevention in individuals from risk groups and the proper treatment of patients already suffering from chronic heart failure.

[Difficulty in diagnosis of primary hyperaldosteronism as the cause of resistant hypertension and severe hypokalemia--case report]. / Trudnosci diagnostyczne pierwotnego hiperaldosteronizmu, jako przyczyny opornego na leczenie nadcisnienia tetniczego i hipokaliemii--opis przypadku.

The most common endocrinological cause of secondary hypertension is primary hyperaldosteronism. Despite great progress in laboratory and imaging techniques, its identification is often difficult. We report the case of the 52-year-old man with resistant hypertension and severe hypokalemia. Renovascular hypertension, Cushing syndrome and pheochromocytoma were excluded as potential causes of drug-resistant hypertension in the presented case. Renal potassium excretion was significantly high. The results of plasma aldosterone concentration measured in supine position as well as in standing position were ambiguous. Computed tomography revealed abnormal round solid mass with a maximum diameter of 11 mm in the left adrenal. As there were not diagnostic results of laboratory research and ambiguous character of pathological structure in research computed tomography we have decided to carry adrenal cortex scintigraphy with iodomethyl-norcholesterol 131I. The result of this research was consistent with left adrenal scan of computed tomography and left adrenal adenoma has been confirmed. Normal blood pressure and normokalemia were restored after surgical treatment.

[The usefulness of natriuretic peptides measurements in the diagnostics of chosen cardiovascular diseases]. / Rola oznaczen peptydów natriuretycznych w diagnostyce wybranych chorób ukladu krazenia.

Natriuretic peptides compose the group of neurohormones produced by the myocardium in response to its walls stretching caused by the volume or pressure overload. They restrain the sodium kidney reabsorbtion, thus increasing the diuresis and natriuresis. They also participate in blood pressure, initial load as well as the water-mineral balance regulation. The main representatives of this group are ANP (atrial natriuretic peptide) and BNP (brain netriuretic peptide). With regard to slow dynamics of the serum levels changes, the measurements of BNP play an important role in cardiological diagnotics. Its serum concentration raises in these cardiovascular diseases that are connected with the left ventricle overload. So it can be treated as a specific left ventricle dysfunction marker, whereas its high concentrations correlate with the functional class according to NYHA. It also can be used in risk stratification in patients with the acute coronary syndrome and pulmonary embolism, as well as helping to differentiate the pulmonary and cardiac causes of acute dyspnoea. The serum level of NT-proBNP (N-terminal propeptide of brain natriuretic peptide) is also the independent predictive factor of the recurrence of atrial fibrillation after the restoring the sinus rhythm.

[Comorbidity of chronic heart failure and chronic obstructive pulmonary disease]. / Wspólwystepowanie przewleklej niewydolnosci serca i przewleklej obturacyjnej choroby pluc.

Cardiovascular diseases most frequently coexist with the chronic obstructive pulmonary disease (COPD). The studies report on over 10 million patients of population suffering both chronic heart failure (CHF) and COPD. Similarity of the clinical symptoms and risk factors found in the medical history of patients with chronic heart failure and chronic obstructive pulmonary disease often causes diagnostic mistakes. At present, medicine has the wide range of diagnostic methods. Among them: well taken medical history, chest radiogram, determination of the serum concentration of natriuretic peptides, spirometry with bronchial reversibility test and many others should be mentioned. The skillfull interpretation of their results guarantee the possibility of more effective treatment. Pulmonary hypertension constitutes the link between the chronic obstructive pulmonary disease and CHF. Although its clinical manifestations are not specific and can be partially masked by the symptoms of COPD, the possibility of its existance should be taken under consideration in every patient with worsening effort toleration or intensification of dysponoea and stable spirometric values with the lack of other causes. It should be emphasized that, apart from the diagnostic leading to diagnosis of those two conditions in one patient, there are also the possible interactions of their concurrent treatment.